Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP4-11
Variant:p.C40Y
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KRTAP4-11

NM_033059.4:p.C40Y

Associated Papers

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1

Genomic case report of a low grade bladder tumor metastasis to lung.

Van Every MJ et al.

Bmc Urology, 2018

30176882 (PubMed )
Supplement: 12894_2018_386_MOESM5_ESM.xlsx › unique_to_Lung_metastasis
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."